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MeSH:(Abnormalities, Multiple*/genetics)

1.Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene.

Qi AI ; Yun CHEN ; Sen CHEN

Chinese Journal of Medical Genetics 2023;40(2):222-225

2.A case of early onset diabetes with myotonic dystrophy type 1.

Jinjing WAN ; Liling ZHAO ; Ping JIN

Journal of Central South University(Medical Sciences) 2023;48(6):930-934

4.Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene.

Shandan CUI ; Haijuan LOU ; Haijun YIN ; Fangfang GENG ; Ning LI ; Lirong MA

Chinese Journal of Medical Genetics 2021;38(12):1211-1215

5.Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17.

Yan ZHAO ; Yanhui ZHAO ; Yuan LYU ; Hong PANG

Chinese Journal of Medical Genetics 2021;38(9):841-844

6.Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing.

Huanhuan WANG ; Wenting JIANG ; Mengyao DAI ; Bing XIAO ; Yan XU ; Yu SUN ; Yu LIU ; Xiaomin YING ; Yunlong SUN ; Wei WEI ; Xing JI

Chinese Journal of Medical Genetics 2019;36(7):686-689

7.Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome.

Feng JING ; Dan YANG ; Tao CHEN ; Lipin LIANG

Chinese Journal of Medical Genetics 2016;33(6):878-882

8.Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene.

Yiru CHEN ; Tianying NONG ; Weizhe SHI ; Jiangui LI ; Xuejiao DING ; Yue LI ; Mingwei ZHU ; Hongwen XU

Chinese Journal of Medical Genetics 2023;40(6):686-690

9.Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1.

Fengyu CHE ; Ying YANG ; Liyu ZHANG ; Xiaoling TIE

Chinese Journal of Medical Genetics 2022;39(8):848-853

10.Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis.

Yangsoon PARK ; Gyungyub GONG ; Gheeyoung CHOE ; Eunsil YU ; Ki Soo KIM ; Inchul LEE

Journal of Korean Medical Science 1993;8(6):471-475

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